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Limb-Girdle Muscular Dystrophy, Type 3 (LGMDR3) is a form of muscle dystrophy (MD) occurring in the Miniature Dachshund.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.224G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | LGMDR3 |
Informations générales
Limb-Girdle Muscular Dystrophy, Type 3 (LGMDR3) is a form of muscle dystrophy (MD) occurring in the Miniature Dachshund. The disorder causes general muscle stiffness, difficulty eating and exercise intolerance. It is caused by a recessive mutation to the gene SGCA.
Caractéristiques cliniques
Affected dogs present as young adults with symptoms including exercise intolerance, progressively weakening muscles, difficulty eating, and pneumonia.
Additional Information
Références
Pubmed ID: 33407862
Year published: 2021
Omia ID: 2305
Omia variant ID: